Gene Interactions in human disease studies—evidence is mounting
P Singhal, SS Verma, MD Ritchie - Annual Review of Biomedical …, 2023 - annualreviews.org
Despite monumental advances in molecular technology to generate genome sequence data
at scale, there is still a considerable proportion of heritability in most complex diseases that …
at scale, there is still a considerable proportion of heritability in most complex diseases that …
Co-occurrence and mutual exclusivity: what cross-cancer mutation patterns can tell us
Cancer is the dysregulated proliferation of cells caused by acquired mutations in key driver
genes. The most frequently mutated driver genes promote tumorigenesis in various …
genes. The most frequently mutated driver genes promote tumorigenesis in various …
[HTML][HTML] KEAP1-driven co-mutations in lung adenocarcinoma unresponsive to immunotherapy despite high tumor mutational burden
Background Immune checkpoint inhibitors (ICIs) have demonstrated significant overall
survival (OS) benefit in lung adenocarcinoma (LUAD). Nevertheless, a remarkable …
survival (OS) benefit in lung adenocarcinoma (LUAD). Nevertheless, a remarkable …
Genetic Determinants of EGFR-Driven Lung Cancer Growth and Therapeutic Response In Vivo
In lung adenocarcinoma, oncogenic EGFR mutations co-occur with many tumor suppressor
gene alterations; however, the extent to which these contribute to tumor growth and …
gene alterations; however, the extent to which these contribute to tumor growth and …
Immune evasion in HPV− head and neck precancer–cancer transition is driven by an aneuploid switch involving chromosome 9p loss
WN William Jr, X Zhao, JJ Bianchi… - Proceedings of the …, 2021 - National Acad Sciences
An aneuploid-immune paradox encompasses somatic copy-number alterations (SCNAs),
unleashing a cytotoxic response in experimental precancer systems, while conversely being …
unleashing a cytotoxic response in experimental precancer systems, while conversely being …
[HTML][HTML] Clonal architecture predicts clinical outcomes and drug sensitivity in acute myeloid leukemia
The impact of clonal heterogeneity on disease behavior or drug response in acute myeloid
leukemia remains poorly understood. Using a cohort of 2,829 patients, we identify features …
leukemia remains poorly understood. Using a cohort of 2,829 patients, we identify features …
Molecular biology and evolution of cancer: from discovery to action
Cancer progression is an evolutionary process. During this process, evolving cancer cell
populations encounter restrictive ecological niches within the body, such as the primary …
populations encounter restrictive ecological niches within the body, such as the primary …
[HTML][HTML] Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform
M Lundberg, LMF Sng, P Szul, R Dunne, A Bayat… - Scientific Reports, 2023 - nature.com
Alzheimer's disease (AD) is a complex genetic disease, and variants identified through
genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has …
genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has …
[HTML][HTML] KEAP1 and TP53 frame genomic, evolutionary, and immunologic subtypes of lung adenocarcinoma with different sensitivity to immunotherapy
Introduction The connection between driver mutations and the efficacy of immune
checkpoint inhibitors is the focus of intense investigations. In lung adenocarcinoma (LUAD) …
checkpoint inhibitors is the focus of intense investigations. In lung adenocarcinoma (LUAD) …
A functional taxonomy of tumor suppression in oncogenic KRAS–driven lung cancer
Cancer genotyping has identified a large number of putative tumor suppressor genes.
Carcinogenesis is a multistep process, but the importance and specific roles of many of …
Carcinogenesis is a multistep process, but the importance and specific roles of many of …